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NM_006280.3(SSR4):c.241C>T (p.Gln81Ter) AND SSR4-congenital disorder of glycosylation

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 13, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001264383.1

Allele description [Variation Report for NM_006280.3(SSR4):c.241C>T (p.Gln81Ter)]

NM_006280.3(SSR4):c.241C>T (p.Gln81Ter)

Gene:
SSR4:signal sequence receptor subunit 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_006280.3(SSR4):c.241C>T (p.Gln81Ter)
HGVS:
  • NC_000023.11:g.153797512C>T
  • NG_041795.1:g.8338C>T
  • NM_001204526.1:c.274C>T
  • NM_001204527.2:c.265C>T
  • NM_006280.3:c.241C>TMANE SELECT
  • NP_001191455.1:p.Gln92Ter
  • NP_001191456.1:p.Gln89Ter
  • NP_006271.1:p.Gln81Ter
  • NC_000023.10:g.153062967C>T
  • NR_037927.1:n.586C>T
  • p.Gln92*
Protein change:
Q81*
Links:
dbSNP: rs2092148846
NCBI 1000 Genomes Browser:
rs2092148846
Molecular consequence:
  • NR_037927.1:n.586C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001204526.1:c.274C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001204527.2:c.265C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_006280.3:c.241C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
SSR4-congenital disorder of glycosylation
Synonyms:
CDG IY; Congenital disorder of glycosylation type 1y; SSR4-CDG
Identifiers:
MONDO: MONDO:0010490; MedGen: C4012395; Orphanet: 370927; OMIM: 300934

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001441513Biochemistry and Genetic Laboratory, APHP Bichat Claude Bernard Hospital
no assertion criteria provided
Pathogenic
(Aug 13, 2015) 		de novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiande novoyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Biochemistry and Genetic Laboratory, APHP Bichat Claude Bernard Hospital, SCV001441513.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided

Description

Type 1 serum sialotransferrin profile Variant inherited de novo

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2022